Smith-Lemli-Opitz Syndrome OMIM# 270400

Facial Gestalt

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Associated Gene


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Key Features

  • growth delay
  • microcephaly
  • intellectual disability
  • abnormality of the male genitalia
  • 2-3 toe syndactyly
  • generalized hypotonia

London Medical Databases:
Smith-Lemli-Opitz Syndrome
OMIM# 270400


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